Molecular assessment retrieved homozygous c.19_35dup17* (p.Ala13Cysfs*65) in SURF1, a gene typically related to a group of homogeneous symptoms (hypertrichosis [78] and peripheral neuropathy), specific imaging findings (leukodystrophy), and high mortality in childhood [79]. The gene discussed is SURF1; the disease is leukodystrophy.